RIC1

Chr 9

RIC1 partner of RAB6A GEF complex

Also known as: CATIFA, CIP150, KIAA1432, bA207C16.1

NCBI Gene: 57589 ENSG00000107036 UniProt: Q4ADV7

The RIC1 protein forms a guanine nucleotide exchange factor complex that activates RAB6A to facilitate endosome-to-Golgi vesicle fusion and is required for procollagen transport, secretion, and craniofacial skeletal development. Biallelic mutations cause CATIFA syndrome, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.398), indicating that complete loss of function is likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in several processes, including positive regulation of GTPase activity; regulation of extracellular matrix constituent secretion; and retrograde transport, endosome to Golgi. Located in cytosol and membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCATIFA syndrome

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.40

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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